Incidental Mutation 'R9411:Garem1'
ID |
711832 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Garem1
|
Ensembl Gene |
ENSMUSG00000042680 |
Gene Name |
GRB2 associated regulator of MAPK1 subtype 1 |
Synonyms |
LOC381126, Garem, Fam59a |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.154)
|
Stock # |
R9411 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
21260399-21433196 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 21369057 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048914
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049260]
|
AlphaFold |
Q3UFT3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000049260
|
SMART Domains |
Protein: ENSMUSP00000048914 Gene: ENSMUSG00000042680
Domain | Start | End | E-Value | Type |
Pfam:CABIT
|
32 |
318 |
3.4e-79 |
PFAM |
low complexity region
|
484 |
499 |
N/A |
INTRINSIC |
low complexity region
|
512 |
518 |
N/A |
INTRINSIC |
PDB:2DKZ|A
|
795 |
874 |
2e-40 |
PDB |
Blast:SAM
|
808 |
875 |
2e-36 |
BLAST |
SCOP:d1kw4a_
|
812 |
873 |
4e-4 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adaptor protein which functions in the epidermal growth factor (EGF) receptor-mediated signaling pathway. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot12 |
G |
A |
13: 91,919,919 (GRCm39) |
A285T |
probably damaging |
Het |
Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
Atg7 |
T |
A |
6: 114,690,289 (GRCm39) |
M650K |
probably benign |
Het |
B020011L13Rik |
G |
A |
1: 117,729,246 (GRCm39) |
G251E |
probably benign |
Het |
Bhlha9 |
T |
C |
11: 76,564,018 (GRCm39) |
V215A |
probably benign |
Het |
Bmal1 |
C |
A |
7: 112,907,837 (GRCm39) |
S513* |
probably null |
Het |
C2cd3 |
T |
C |
7: 100,065,704 (GRCm39) |
V452A |
|
Het |
Cd55 |
G |
A |
1: 130,368,114 (GRCm39) |
H370Y |
probably benign |
Het |
Col6a1 |
A |
G |
10: 76,547,487 (GRCm39) |
V662A |
unknown |
Het |
Crocc |
A |
G |
4: 140,749,577 (GRCm39) |
|
probably null |
Het |
Cspg4b |
T |
A |
13: 113,504,767 (GRCm39) |
N1965K |
|
Het |
Dnah1 |
C |
T |
14: 31,018,256 (GRCm39) |
V1421M |
probably damaging |
Het |
Eid3 |
T |
G |
10: 82,703,652 (GRCm39) |
I371S |
probably damaging |
Het |
Flnc |
G |
A |
6: 29,441,484 (GRCm39) |
R422Q |
probably benign |
Het |
Fshr |
T |
C |
17: 89,293,148 (GRCm39) |
Y510C |
probably damaging |
Het |
Gcn1 |
C |
T |
5: 115,733,098 (GRCm39) |
T1045M |
possibly damaging |
Het |
Ggt6 |
T |
A |
11: 72,326,560 (GRCm39) |
L39H |
probably damaging |
Het |
Glrb |
T |
C |
3: 80,767,610 (GRCm39) |
|
probably null |
Het |
Gpr171 |
T |
A |
3: 59,005,311 (GRCm39) |
K155* |
probably null |
Het |
Has2 |
T |
A |
15: 56,531,306 (GRCm39) |
T470S |
possibly damaging |
Het |
Ighv1-34 |
C |
T |
12: 114,815,070 (GRCm39) |
V31M |
probably damaging |
Het |
Kdm2a |
A |
T |
19: 4,412,835 (GRCm39) |
N50K |
probably damaging |
Het |
Mfsd9 |
C |
T |
1: 40,829,692 (GRCm39) |
V30M |
probably damaging |
Het |
Msra |
A |
G |
14: 64,471,331 (GRCm39) |
I126T |
probably benign |
Het |
Nkd2 |
G |
A |
13: 73,969,330 (GRCm39) |
L379F |
probably benign |
Het |
Nr2f2 |
A |
C |
7: 70,007,525 (GRCm39) |
V319G |
|
Het |
Ntng2 |
A |
T |
2: 29,138,048 (GRCm39) |
L2Q |
probably damaging |
Het |
Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
Pcnt |
T |
C |
10: 76,258,896 (GRCm39) |
E523G |
probably damaging |
Het |
Pllp |
C |
T |
8: 95,402,868 (GRCm39) |
A158T |
probably benign |
Het |
Plxna4 |
A |
G |
6: 32,159,682 (GRCm39) |
S1431P |
probably damaging |
Het |
Pramel16 |
A |
T |
4: 143,676,215 (GRCm39) |
F296L |
probably damaging |
Het |
Pramel31 |
A |
G |
4: 144,089,997 (GRCm39) |
I346V |
probably benign |
Het |
Prpf40a |
T |
C |
2: 53,029,200 (GRCm39) |
D951G |
unknown |
Het |
Retn |
G |
A |
8: 3,707,378 (GRCm39) |
A113T |
probably benign |
Het |
Rexo1 |
G |
T |
10: 80,397,248 (GRCm39) |
R3S |
|
Het |
Rras |
T |
A |
7: 44,669,979 (GRCm39) |
I137N |
possibly damaging |
Het |
Rsf1 |
A |
AAGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
Sntb2 |
A |
G |
8: 107,737,931 (GRCm39) |
D493G |
probably damaging |
Het |
Socs5 |
T |
C |
17: 87,442,521 (GRCm39) |
I487T |
possibly damaging |
Het |
Spryd3 |
A |
G |
15: 102,027,843 (GRCm39) |
Y235H |
probably damaging |
Het |
Suco |
T |
A |
1: 161,666,356 (GRCm39) |
I515F |
probably damaging |
Het |
Syn2 |
T |
C |
6: 115,231,152 (GRCm39) |
V269A |
possibly damaging |
Het |
Tmbim6 |
T |
C |
15: 99,304,501 (GRCm39) |
L186P |
probably damaging |
Het |
Tmem234 |
T |
C |
4: 129,495,988 (GRCm39) |
Y57H |
probably damaging |
Het |
Tnik |
C |
A |
3: 28,684,754 (GRCm39) |
P861T |
probably damaging |
Het |
Tns1 |
A |
G |
1: 73,992,662 (GRCm39) |
L45P |
probably damaging |
Het |
Veph1 |
T |
A |
3: 65,995,238 (GRCm39) |
D671V |
possibly damaging |
Het |
Vwc2l |
A |
T |
1: 70,767,980 (GRCm39) |
I15F |
probably benign |
Het |
Zdbf2 |
A |
T |
1: 63,343,288 (GRCm39) |
N556Y |
probably damaging |
Het |
Zfp202 |
T |
A |
9: 40,118,878 (GRCm39) |
V97D |
probably damaging |
Het |
Zfp800 |
T |
C |
6: 28,243,430 (GRCm39) |
I512V |
possibly damaging |
Het |
Zkscan2 |
T |
C |
7: 123,084,405 (GRCm39) |
D573G |
probably damaging |
Het |
|
Other mutations in Garem1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00504:Garem1
|
APN |
18 |
21,281,714 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01588:Garem1
|
APN |
18 |
21,262,854 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02171:Garem1
|
APN |
18 |
21,262,298 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02270:Garem1
|
APN |
18 |
21,281,507 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03149:Garem1
|
APN |
18 |
21,264,523 (GRCm39) |
missense |
probably damaging |
1.00 |
R0136:Garem1
|
UTSW |
18 |
21,263,048 (GRCm39) |
missense |
probably damaging |
0.96 |
R0285:Garem1
|
UTSW |
18 |
21,262,669 (GRCm39) |
missense |
probably benign |
|
R0361:Garem1
|
UTSW |
18 |
21,432,801 (GRCm39) |
nonsense |
probably null |
|
R1068:Garem1
|
UTSW |
18 |
21,301,812 (GRCm39) |
missense |
probably benign |
0.00 |
R1537:Garem1
|
UTSW |
18 |
21,301,931 (GRCm39) |
splice site |
probably null |
|
R1726:Garem1
|
UTSW |
18 |
21,281,319 (GRCm39) |
missense |
probably damaging |
0.99 |
R1826:Garem1
|
UTSW |
18 |
21,262,509 (GRCm39) |
missense |
probably benign |
0.00 |
R2140:Garem1
|
UTSW |
18 |
21,262,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R3714:Garem1
|
UTSW |
18 |
21,281,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R3937:Garem1
|
UTSW |
18 |
21,281,863 (GRCm39) |
nonsense |
probably null |
|
R4362:Garem1
|
UTSW |
18 |
21,369,172 (GRCm39) |
missense |
possibly damaging |
0.62 |
R4441:Garem1
|
UTSW |
18 |
21,301,807 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4747:Garem1
|
UTSW |
18 |
21,263,000 (GRCm39) |
missense |
probably benign |
|
R4814:Garem1
|
UTSW |
18 |
21,281,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R4831:Garem1
|
UTSW |
18 |
21,262,825 (GRCm39) |
missense |
probably benign |
0.01 |
R4838:Garem1
|
UTSW |
18 |
21,280,950 (GRCm39) |
missense |
probably benign |
0.00 |
R5805:Garem1
|
UTSW |
18 |
21,281,492 (GRCm39) |
missense |
probably benign |
0.04 |
R5963:Garem1
|
UTSW |
18 |
21,262,487 (GRCm39) |
missense |
probably benign |
0.45 |
R5982:Garem1
|
UTSW |
18 |
21,281,408 (GRCm39) |
missense |
possibly damaging |
0.64 |
R6134:Garem1
|
UTSW |
18 |
21,262,881 (GRCm39) |
missense |
probably benign |
0.00 |
R6242:Garem1
|
UTSW |
18 |
21,262,229 (GRCm39) |
missense |
possibly damaging |
0.72 |
R6453:Garem1
|
UTSW |
18 |
21,281,796 (GRCm39) |
missense |
probably damaging |
0.99 |
R6485:Garem1
|
UTSW |
18 |
21,262,894 (GRCm39) |
missense |
probably benign |
0.00 |
R6596:Garem1
|
UTSW |
18 |
21,281,796 (GRCm39) |
missense |
probably damaging |
0.99 |
R6662:Garem1
|
UTSW |
18 |
21,281,304 (GRCm39) |
missense |
probably benign |
0.45 |
R6883:Garem1
|
UTSW |
18 |
21,262,769 (GRCm39) |
missense |
probably benign |
|
R6937:Garem1
|
UTSW |
18 |
21,280,827 (GRCm39) |
missense |
probably benign |
0.00 |
R7027:Garem1
|
UTSW |
18 |
21,263,051 (GRCm39) |
missense |
probably benign |
|
R7256:Garem1
|
UTSW |
18 |
21,281,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R7534:Garem1
|
UTSW |
18 |
21,432,973 (GRCm39) |
start gained |
probably benign |
|
R7620:Garem1
|
UTSW |
18 |
21,262,898 (GRCm39) |
missense |
probably benign |
|
R7869:Garem1
|
UTSW |
18 |
21,432,757 (GRCm39) |
missense |
probably damaging |
1.00 |
R7963:Garem1
|
UTSW |
18 |
21,281,844 (GRCm39) |
missense |
probably damaging |
0.98 |
R8058:Garem1
|
UTSW |
18 |
21,281,621 (GRCm39) |
missense |
probably damaging |
1.00 |
R8953:Garem1
|
UTSW |
18 |
21,264,388 (GRCm39) |
critical splice donor site |
probably null |
|
R9273:Garem1
|
UTSW |
18 |
21,281,274 (GRCm39) |
missense |
probably damaging |
0.99 |
R9475:Garem1
|
UTSW |
18 |
21,281,370 (GRCm39) |
missense |
probably benign |
0.00 |
R9789:Garem1
|
UTSW |
18 |
21,262,985 (GRCm39) |
missense |
possibly damaging |
0.81 |
Z1176:Garem1
|
UTSW |
18 |
21,281,382 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Garem1
|
UTSW |
18 |
21,262,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTGCTCCAATTCCAAGACC -3'
(R):5'- TCCCAGCTTTCTCATATGGAATTG -3'
Sequencing Primer
(F):5'- GACCACAAAGGAATTCTCCATG -3'
(R):5'- GTATTTTCTAGGAGAATGCGTGGAAG -3'
|
Posted On |
2022-05-16 |